Mom's Story, A Child Learns About MS

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Sunday, May 17, 2015

Study Uncovers Gene Variation Linked to Response to MS Therapy; May Open Up New Treatment Approaches

Collaborating researchers in the U.S. and Italy have uncovered a gene
variant that appears to influence whether a person responds well to
interferon beta, a commonly used therapy for relapsing forms of MS. More
broadly, the gene may regulate immune activity in unexpected ways, and
its discovery may lead to new approaches to stopping inflammation and
immune attacks in MS. Drs. Federica Esposito and Filippo Martinelli
Boneschi (San Raffaele Scientific Institute, Milan), Philip L. De Jager
(Brigham and Women’s Hospital, Boston) and colleagues have published
their results in the Annals of Neurology (Early online May 14, 2015).
The study was supported by the National MS Society and several other
agencies.Background: For reasons that are unclear, some people with relapsing forms of MS
do not respond well to therapy and continue to experience disease
activity despite being on a disease-modifying therapy. Previous genetic studies
in MS have uncovered over 159 genetic variations that contribute to
making people susceptible to developing MS, but these studies haven’t
identified genetic variations that influence how a person responds to
treatment. Finding a way to identify early in the disease course the
best therapy for an individual – a “personalized medicine” approach – is
likely to improve outcomes of treatment and quality of life for people
living with MS. One of the lead authors of this study, Dr. De Jager,
recently won the Barancik Prize
for Innovation in MS Research for tackling critical questions like this
with the goal of developing personalized treatments and prevention of
MS.This Study: Trying a different approach to search for
genetic influences on treatment responses, the investigators first
studied a group of individuals with MS who were taking interferon beta
or glatiramer acetate. The individuals were classified as being
responders, partial responders, or non-responders to their medication
based on specific criteria. Then the researchers analyzed their full
complement of genes (genome-wide association study) and found one
genetic variant that was consistently associated with lack of response
to interferon beta. When the researchers repeated this in three other
groups of people with MS from Italy, France and the U.S., this finding
held up.
The genetic variant (rs9828519) is near a gene (SLC9A9) that controls
pH levels (acidity) within cells. The team explored functions of this
gene, and found that its activity was diminished in people more likely
to have MS relapses. They also conducted laboratory work, finding
suggestions that the gene appears to play a role in regulating immune
cell activity, and that its loss leads to damaging immune reactions.
This suggests the gene may play a broader role in regulating immune
activity.Comment: Although the results of this study are not
yet ready for applying to the management of MS, this discovery may lead
to new approaches for stopping inflammation and immune attacks in MS. In
addition, this study is an important step toward the goal of
personalized medicine. The researchers point out that additional
research is warranted to confirm their findings and to determine whether
the genetic variant is relevant to how well people respond to other MS
medications.

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About Me

Mary J. Nickum is a retired librarian, who is now an editor and freelance writer of fish culture related articles. Her primary focus is on science for the public. She has chosen to extend her science for the public outreach to children.